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SCARB2 variants and glucocerebrosidase activity in Parkinson’s disease

9 Mar 2016

Abstract excerpt

Abstract Mutations in glucocerebrosidase ( GBA ) are a common risk factor for Parkinson's disease (PD). The scavenger receptor class B member 2 ( SCARB2 ) gene encodes a receptor responsible for the transport of glucocerebrosidase (GCase) to the lysosome. Two common SNPs in linkage disequilibrium with SCARB2 , rs6812193 and rs6825004, have been associated with PD and Lewy Body Disease in genome-wide association...

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PMID: 27110593
DOI: 10.1038/npjparkd.2016.4

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